Submissions for variant NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)

gnomAD frequency: 0.00388  dbSNP: rs35346129

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000178522	SCV000168502	benign	not specified	2013-02-19	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000178522	SCV000230617	benign	not specified	2015-01-19	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000178522	SCV000247366	uncertain significance	not specified	2015-02-13	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000178522	SCV000269097	benign	not specified	2013-04-04	criteria provided, single submitter	clinical testing	Arg1832Arg in exon 43 of FBN2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.5% (45/8600) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs35346129).
Invitae	RCV000229763	SCV000287269	benign	Congenital contractural arachnodactyly	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000178522	SCV000308623	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002310701	SCV000317342	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2014-12-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina	RCV000229763	SCV000452579	benign	Congenital contractural arachnodactyly	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659627	SCV000781467	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001795235	SCV000883871	benign	not provided	2023-10-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001795235	SCV002497347	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	FBN2: BP4, BP7, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277260	SCV002565935	benign	Ehlers-Danlos syndrome	2021-12-25	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV000659627	SCV002566586	benign	Connective tissue disorder	2020-01-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000178522	SCV004222929	benign	not specified	2023-11-20	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000178522	SCV002034060	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795235	SCV002035457	likely benign	not provided		no assertion criteria provided	clinical testing